Search

Investigating trends in Down syndrome live births in the US from 1989 to 2001 using birth certificate data. Down syndrome live births declined in the US despite an expected increase caused by delayed or extended childbearing.

Most maternal-fetal medicine specialists perform Down syndrome screening, according to a survey of 543 specialists. Most offer second-trimester screening and about half offer first-trimester screening. Amniocentesis was the most common prenatal test, but many specialists also used blood tests and ultrasound scans.

Combining blood tests with ultrasound scans for fetal anatomic abnormalities can improve the prenatal diagnosis of Down syndrome in women 35 years old or older. The combined screen detects 97% of fetuses with Down syndrome with a 22% false-positive test.

Down syndrome detection rates may be more accurate when gestational age of the infant is determined by ultrasound than by date of last menstrual period (LMP). Researchers compared initial and revised Down syndrome detection rates for over 24,000 women, and gestational age and testing results for 24 Down syndrome pregnancies. Initial and revised screening rates were lower and detection rates were higher and more accurate for pregnancies dated with ultrasound measurement of fetal head diameter. A benefit to use of ultrasound to determine gestational age is that fewer amniocentesis samples need to be taken.

Byline: Peter A. Benn, Adam Borgida, Donna Horne, Susan Briganti, Roxanne Collins, John F. Rodis Keywords: Down syndrome; maternal serum screening; [alpha]-fetoprotein and related analytes; amniocentesis, open neural tube defects Abstract: OBJECTIVE: Our goal was to determine whether gestational age should be based on ultrasonographic evaluation or last menstrual period data in the interpretation of second-trimester maternal serum screening for Down syndrome and open neural tube defects. STUDY DESIGN: Initial and revised screen-positive rates and detection rates were reviewed for women undergoing triple-marker testing (maternal serum [alpha]-fetoprotein, human chorionic gonadotropin, and unconjugated estriol). The study population consisted of >24,000 women at 15.0 to 21.9 weeks' gestation with approximately 60% of test interpretations based on ultrasonographic evaluation of gestational age. Gestational age and screening results were compared for 24 Down syndrome pregnancies in which both ultrasonography and last menstrual period dating were available. RESULTS: Both initial and revised screen-positive rates for Down syndrome were significantly lower when ultrasonographic data were used compared with last menstrual period dating. The detection rate for Down syndrome appeared to be higher with ultrasonographic dating (approximately 76% vs 60% for last menstrual period dating). Down syndrome fetuses had a significantly shorter gestational age when evaluated by ultrasonography (relative to last menstrual period dating), but a similar trend was also seen in control pregnancies. Initial and revised screen-positive rates for open neural tube defects were higher for women who had received an ultrasonographic examination compared with the rates for those women referred with only last menstrual period data. The detection rates for open neural tube defects were similar for both methods of pregnancy dating. CONCLUSION: By use of ultrasonographic measurement of gestational age, the number of amniocenteses performed to detect Down syndrome can be substantially reduced while detection rates are maintained or improved. (Am J Obstet Gynecol 1997;176:1056-61.) Author Affiliation: Farmington, Connecticut Article History: Received 21 October 1996; Revised 12 December 1996; Accepted 27 January 1997 Article Note: (footnote) [star] From the Division of Human Genetics and the Division of Maternal-Fetal Medicine, Department of Pediatrics and Department of Obstetrics and Gynecology, University of Connecticut Health Center., [star][star] Reprint requests: Peter A. Benn, PhD, University of Connecticut Health Center, Division of Human Genetics, Department of Pediatrics, 263 Farmington Ave., Farmington, CT 06030-6140., a 0002-9378/97 $5.00 + 0 6/1/80755

Follow-up on triple marker testing may identify chromosomal abnormalities other than Down syndrome. Triple testing measures maternal blood levels of alpha-fetoprotein, human chorionic gonadotropin, and estriol. Triple testing was carried out on 11,434 pregnant women between 15 and 22 weeks pregnant. Follow-up information was available on 74% of the women. Fourteen (5%) Down syndrome fetuses had positive triple tests. Calculations show the expected number to be 20, therefore 70% were detected. Twelve cases of other chromosomal abnormalities were found among the 468 patients who had genetic analysis. Only one was diagnosed during ultrasound imaging. Except for two cases of one type of sex chromosome abnormality, whose occurrence is known to correlate with abnormal triple testing results, the rest are believed to be serendipitous discoveries.

Background. It is important to develop parameters that aid in prognosticating which patients with breast cancer are more likely to have a rapid disease course and therefore might benefit from early aggressive therapies. Methods. Specimens from two groups of women, deliberately selected because their clinical courses differed greatly, were studied to detect amplification of the protooncogenes c-myc, int-2, and C-erbB-2/neu by slot-blot assay, the estrogen receptor (ER), and the progesterone receptor (PR) by both biochemical and immunohistochemical procedures (ERICA and PRICA). One group of 50 patients had a prolonged disease-free interval after initial surgery (mean, 6.4 years); the other group of 52 women had had rapid disease recurrence (mean, 1.4 years) or progression (5 patients died of disease within 1 year of diagnosis). The patients were selected from 1700 consecutively accessioned cases if they fit the study criteria and sufficient tissue was available for oncogene hybridization studies. Results. The two groups differed statistically by stage, number of involved axillary lymph nodes, ERICA and PRICA results (P = 0.001), and amplification of c-myc (P = 0.003). The percentage of patients with rapid disease recurrence and progression increased from 0-93% when risk factors changed from best case (ERICA and PRICA results, positive; c-myc, not amplified; and axillary nodes, not involved) to worst case (ERICA and PRICA findings, negative; c-myc, amplified; and axillary nodes, involved). Conclusions. Women with these worst-case parameters were more likely to have a recurrence sooner and rapidly progressive disease. They might benefit from early aggressive therapeutic measures. Cancer 1993; 71:162-71.

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ajog.2009.02.029 Byline: Yu Ming Victor Fang (a), Peter Benn (b), Winston Campbell (a), Jay Bolnick (a), Anne Marie Prabulos (a), James F.X. Egan (a) Keywords: amniocentesis; chorionic villous sampling; Down syndrome; first-trimester screening; quad screen Abstract: The purpose of this study was to determine changes in screening and performance of invasive diagnostic procedures for Down syndrome between 2001 and 2007. Author Affiliation: (a) Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Connecticut School of Medicine, Farmington, CT (b) Department of Genetics and Developmental Biology, University of Connecticut School of Medicine, Farmington, CT Article History: Received 22 October 2008; Revised 20 December 2008; Accepted 26 February 2009 Article Note: (footnote) Cite this article as: Fang YMV, Benn P, Campbell W, et al. Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists. Am J Obstet Gynecol 2009;201:97.e1-5. , Reprints not available from the authors., Authorship and contribution to the manuscript is limited to the 6 authors indicated. There was no outside funding or technical assistance with the production of this article.

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ajog.2007.06.054 Byline: Peter A. Benn, Winston A. Campbell, Carolyn M. Zelop, Charles Ingardia, James F.X. Egan Keywords: amniocentesis; chorionic villus sampling; Down syndrome; prenatal screening; trisomy 18 Abstract: The purpose of this study was to evaluate stepwise sequential screening for fetal aneuploidy. Author Affiliation: Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT. Article Note: (footnote) Cite this article as: Benn PA, Campbell WA, Zelop CM, Ingardia C, Egan JFX. Stepwise sequential screening for fetal aneuploidy. Am J Obstet Gynecol 2007;197:312.e1-312.e5. Reprints not available from the authors.